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Pseudohypoparathyroidism: A Case Report of a Rare Disease with Uncommon Presentation Producing Diagnostic Dilemma.
- Published in:
- 2011
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- Publication type:
- Case Study
Pseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female.
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- International Medical Case Reports Journal, 2012, v. 5, p. 49, doi. 10.2147/IMCRJ.S34079
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- Publication type:
- Article
Mental Deficiency in Pseudohypoparathyroidism Type I Is Associated with Ns--Protein Deficiency.
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- Annals of Internal Medicine, 1986, v. 105, n. 2, p. 197, doi. 10.7326/0003-4819-105-2-197
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- Publication type:
- Article
Pseudohypoparathyroidism as a Cause of Refractory Seizures.
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- Journal of Nepal Paediatric Society, 2014, v. 34, n. 2, p. 166, doi. 10.3126/jnps.v34i2.10602
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- Publication type:
- Article
Hereditary Osteodystrophy with Multiple Hormone Resistance--A Case Report.
- Published in:
- 2009
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- Publication type:
- Case Study
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity.
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- Journal of Bone & Mineral Research, 2018, v. 33, n. 8, p. 1480, doi. 10.1002/jbmr.3450
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- Publication type:
- Article
Bone Mineral Density and Its Serial Changes Are Associated With PTH Levels in Pseudohypoparathyroidism Type 1B Patients.
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- Journal of Bone & Mineral Research, 2018, v. 33, n. 4, p. 743, doi. 10.1002/jbmr.3360
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- Publication type:
- Article
Bone Status Among Patients With Nonsurgical Hypoparathyroidism, Autosomal Dominant Hypocalcaemia, and Pseudohypoparathyroidism: A Cohort Study.
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- Journal of Bone & Mineral Research, 2018, v. 33, n. 3, p. 467, doi. 10.1002/jbmr.3328
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- Publication type:
- Article
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
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- Journal of Bone & Mineral Research, 2017, v. 32, n. 4, p. 776, doi. 10.1002/jbmr.3083
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- Publication type:
- Article
Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.
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- Journal of Bone & Mineral Research, 2017, v. 32, n. 4, p. 770, doi. 10.1002/jbmr.3043
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- Publication type:
- Article
A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.
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- Journal of Bone & Mineral Research, 2015, v. 30, n. 10, p. 1803, doi. 10.1002/jbmr.2532
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- Publication type:
- Article
TSH Elevations as the First Laboratory Evidence for Pseudohypoparathyroidism Type Ib (PHP-Ib).
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- Journal of Bone & Mineral Research, 2015, v. 30, n. 5, p. 906, doi. 10.1002/jbmr.2408
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- Publication type:
- Article
Postnatal Establishment of Allelic Gαs Silencing as a Plausible Explanation for Delayed Onset of Parathyroid Hormone Resistance Owing to Heterozygous Gαs Disruption.
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- Journal of Bone & Mineral Research, 2014, v. 29, n. 3, p. 749, doi. 10.1002/jbmr.2070
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- Publication type:
- Article
Parathyroid hormone signaling via Gαs is selectively inhibited by an NH<sub>2</sub>-terminally truncated Gαs: Implications for pseudohypoparathyroidism.
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- Journal of Bone & Mineral Research, 2011, v. 26, n. 10, p. 2473, doi. 10.1002/jbmr.461
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- Publication type:
- Article
Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?
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- Journal of Bone & Mineral Research, 2011, v. 26, n. 8, p. 1854, doi. 10.1002/jbmr.408
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- Publication type:
- Article
Pseudohypoparathyroidism type 1a.
- Published in:
- 2018
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- Publication type:
- Case Study
Knuckle–dimple sign.
- Published in:
- QJM: An International Journal of Medicine, 2013, v. 106, n. 1, p. 83, doi. 10.1093/qjmed/hcr220
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- Publication type:
- Article
Pseudohypoparathyroidism: a series of three cases and an unusual presentation of ocular tetany.
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- Anaesthesia, 2006, v. 61, n. 4, p. 394, doi. 10.1111/j.1365-2044.2006.04543.x
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- Publication type:
- Article
Autosomal-Dominant Pseudohypoparathyroidism Type Ib is Caused by Different Microdeletions Within or Upstream of the GNAS Locus.
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- Annals of the New York Academy of Sciences, 2006, v. 1068, n. 1, p. 250, doi. 10.1196/annals.1346.029
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- Publication type:
- Article
Two mutations of the Gsα gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
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- Journal of Human Genetics, 2001, v. 46, n. 7, p. 426, doi. 10.1007/s100380170062
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- Publication type:
- Article
Subcutaneous fat necrosis associated with severe hypocalcaemia in a neonate.
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- Journal of Perinatology, 2006, v. 26, n. 1, p. 64, doi. 10.1038/sj.jp.7211415
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- Publication type:
- Article
All Madelung deformities are not endocrine.
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- Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. S1, p. S231, doi. 10.4103/2230-8210.119581
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- Publication type:
- Article
Visual disturbances as a presenting feature of pseudohypoparathyroidism.
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- Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. S1, p. S219, doi. 10.4103/2230-8210.119577
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- Publication type:
- Article
Short fourth and fifth metacarpals in a case of idiopathic primary hypoparathyroidism.
- Published in:
- 2013
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- Publication type:
- Case Study
Plurihormone secreting pituitary macroadenoma masquerading as thyrotoxicosis: Clinical presentation and diagnostic challenges.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2012, v. 16, p. S315, doi. 10.4103/2230-8210.104073
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- Publication type:
- Article
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.
- Published in:
- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0175-8
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- Publication type:
- Article
Albright hereditary osteodystrophy: dental management case report.
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- RGO: Revista Gaúcha de Odontologia, 2018, v. 66, n. 1, p. 106, doi. 10.1590/1981-863720180001000153289
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- Publication type:
- Article
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 560, doi. 10.1038/ejhg.2015.40
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- Publication type:
- Article
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 494, doi. 10.1038/ejhg.2014.133
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- Publication type:
- Article
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 438, doi. 10.1038/ejhg.2014.127
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- Publication type:
- Article
Clinical utility gene card for: Pseudohypoparathyroidism.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.211
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- Publication type:
- Article
Late diagnosis of pseudohypoparathyroidism in adulthood. Case series.
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- Revista Facultad de Medicina de la Universidad Nacional de Colombia, 2018, v. 66, n. 4, p. 643, doi. 10.15446/revfacmed.v66n4.66940
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- Publication type:
- Article
TYPE Ib PSEUDOHYPOPARATHYROIDISM ASSOCIATED WITH THROMBOCYTOPENIA AND POSSIBLY RESISTANCE TO TSH.
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- Acta Endocrinologica (1841-0987), 2008, v. 4, n. 3, p. 321, doi. 10.4183/aeb.2008.321
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- Publication type:
- Article
PSEUDOHYPOPARATHYROIDISM.
- Published in:
- Acta Endocrinologica (1841-0987), 2007, v. 3, n. 4, p. 503, doi. 10.4183/aeb.2007.503
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- Publication type:
- Article
Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0648-z
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- Publication type:
- Article
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0530-z
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- Publication type:
- Article
Ain't No Sunshine When She's Gone: Pseudohypoparathyroidism Discovered in an Adult.
- Published in:
- Case Reports in Endocrinology, 2012, p. 1, doi. 10.1155/2012/739375
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- Publication type:
- Article
Hypocalcaemic Stridor in Children How Often is it Missed?
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- Clinical Pediatrics, 1991, v. 30, n. 1, p. 51, doi. 10.1177/000992289103000108
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- Publication type:
- Article
Vitamin D<sub>2</sub> Therapy of Pseudohypoparathyroidism.
- Published in:
- Clinical Pediatrics, 1986, v. 25, n. 1, p. 49, doi. 10.1177/000992288602500110
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- Publication type:
- Article
Albright's hereditary osteodystrophy in conjunction with growth hormone deficiency and adrenal insufficiency.
- Published in:
- Journal of Dialog in Endocrinology / Endokrinolide Diyalog Dergisi, 2011, v. 8, n. 3, p. 138
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- Publication type:
- Article
The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?
- Published in:
- Case Reports in Medicine, 2016, p. 1, doi. 10.1155/2016/7645938
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- Publication type:
- Article
Incidence of juvenile osteodystrophy in hand-reared grey parrots (Psittacus e erithacus).
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- Veterinary Record: Journal of the British Veterinary Association, 2003, v. 152, n. 14, p. 438, doi. 10.1136/vr.152.14.438
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- Publication type:
- Article
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
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- Nature Genetics, 2015, v. 47, n. 11, p. 1363, doi. 10.1038/ng.3410
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- Publication type:
- Article
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.
- Published in:
- Nature Genetics, 2005, v. 37, n. 1, p. 25, doi. 10.1038/ng1487
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- Publication type:
- Article
Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review.
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- European Journal of Endocrinology, 2023, v. 189, n. 5, p. S103, doi. 10.1093/ejendo/lvad142
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- Publication type:
- Article
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
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- European Journal of Endocrinology, 2016, v. 175, n. 6, p. 1, doi. 10.1530/EJE-16-0107
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- Publication type:
- Article
Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay.
- Published in:
- European Journal of Endocrinology, 2013, v. 168, n. 2, p. 169, doi. 10.1530/EJE-12-0548
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- Publication type:
- Article
Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis.
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- European Journal of Endocrinology, 2011, v. 164, n. 2, p. 295, doi. 10.1530/EJE-10-0795
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- Publication type:
- Article
New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism.
- Published in:
- European Journal of Endocrinology, 2010, v. 163, n. 6, p. 953
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- Publication type:
- Article
Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.
- Published in:
- European Journal of Endocrinology, 2010, v. 163, n. 3, p. 489, doi. 10.1530/EJE-10-0348
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- Publication type:
- Article